Canonical Allele Identifier: CA353250438

Gene: CACNA1D

Linked Data

• MyVariant Identifiers: chr3:g.53835230T>C (hg19) ; chr3:g.53801203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53801203T>C , CM000665.2:g.53801203T>C	GRCh38
NC_000003.11:g.53835230T>C , CM000665.1:g.53835230T>C	GRCh37
NC_000003.10:g.53810270T>C	NCBI36
NG_032999.1:g.311155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.5246T>C	ENSP00000418014.2:p.Phe1749Ser
ENST00000636633.2:n.2194-9T>C
ENST00000636999.2:n.621T>C
ENST00000288139.11:c.5246T>C MANE Plus Clinical	ENSP00000288139.3:p.Phe1749Ser
ENST00000350061.11:c.5186T>C MANE Select	ENSP00000288133.5:p.Phe1729Ser
ENST00000422281.7:c.5141T>C	ENSP00000409174.2:p.Phe1714Ser
ENST00000636448.1:c.1316-9T>C
ENST00000636570.1:c.5141T>C	ENSP00000490183.1:p.Phe1714Ser
ENST00000636629.1:n.542T>C
ENST00000636633.1:n.2194-9T>C
ENST00000636999.1:n.613T>C
ENST00000637424.1:c.5213T>C	ENSP00000489769.1:p.Phe1738Ser
ENST00000288139.8:c.5246T>C	ENSP00000288139.3:p.Phe1749Ser
ENST00000350061.9:c.5186T>C	ENSP00000288133.5:p.Phe1729Ser
ENST00000422281.6:c.5141T>C	ENSP00000409174.2:p.Phe1714Ser
ENST00000481478.1:c.4265T>C	ENSP00000418014.1:p.Phe1422Ser
NM_000720.3:c.5246T>C	NP_000711.1:p.Phe1749Ser
NM_001128839.2:c.5141T>C	NP_001122311.1:p.Phe1714Ser
NM_001128840.2:c.5186T>C	NP_001122312.1:p.Phe1729Ser
XM_005265448.2:c.5141T>C	XP_005265505.1:p.Phe1714Ser
XM_011534094.1:c.5441T>C	XP_011532396.1:p.Phe1814Ser
XM_011534095.1:c.5330T>C	XP_011532397.1:p.Phe1777Ser
XM_011534096.1:c.5252T>C	XP_011532398.1:p.Phe1751Ser
XM_011534097.1:c.4904T>C	XP_011532399.1:p.Phe1635Ser
XM_011534098.1:c.4904T>C	XP_011532400.1:p.Phe1635Ser
XM_011534099.1:c.4529T>C	XP_011532401.1:p.Phe1510Ser
XM_011534100.1:c.5336T>C	XP_011532402.1:p.Phe1779Ser
XM_005265448.3:c.5141T>C	XP_005265505.1:p.Phe1714Ser
XM_011534094.2:c.5441T>C	XP_011532396.1:p.Phe1814Ser
XM_011534096.2:c.5252T>C	XP_011532398.1:p.Phe1751Ser
XM_011534097.2:c.4904T>C	XP_011532399.1:p.Phe1635Ser
XM_011534099.2:c.4529T>C	XP_011532401.1:p.Phe1510Ser
XM_011534100.2:c.5336T>C	XP_011532402.1:p.Phe1779Ser
XM_017007137.1:c.5441T>C	XP_016862626.1:p.Phe1814Ser
XM_017007138.1:c.5438T>C	XP_016862627.1:p.Phe1813Ser
XM_017007139.1:c.5441T>C	XP_016862628.1:p.Phe1814Ser
XM_017007140.1:c.5381T>C	XP_016862629.1:p.Phe1794Ser
XM_017007141.1:c.5381T>C	XP_016862630.1:p.Phe1794Ser
XM_017007142.1:c.5357T>C	XP_016862631.1:p.Phe1786Ser
XM_017007143.1:c.5357T>C	XP_016862632.1:p.Phe1786Ser
XM_017007144.1:c.5357T>C	XP_016862633.1:p.Phe1786Ser
XM_017007145.1:c.5312T>C	XP_016862634.1:p.Phe1771Ser
NM_001128840.3:c.5186T>C MANE Select	NP_001122312.1:p.Phe1729Ser
NM_000720.4:c.5246T>C MANE Plus Clinical	NP_000711.1:p.Phe1749Ser
NM_001128839.3:c.5141T>C	NP_001122311.1:p.Phe1714Ser